Canonical Allele Identifier: CA006433
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 67384
ClinVar RCV Id: RCV000058105
dbSNP Id: rs199472994
MyVariant Identifiers: chr7:g.150647345A>G (hg19) chr7:g.150950257A>G (hg38)
PubMed: PMID:19716085 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950257A>G , CM000669.2:g.150950257A>G GRCh38
NC_000007.13:g.150647345A>G , CM000669.1:g.150647345A>G GRCh37
NC_000007.12:g.150278278A>G NCBI36
NG_008916.1:g.32670T>C , LRG_288:g.32670T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.1607T>C
ENST00000684241.1:n.3142T>C
ENST00000262186.10:c.2309T>C MANE Select ENSP00000262186.5:p.Val770Ala
ENST00000330883.9:c.1289T>C ENSP00000328531.4:p.Val430Ala
ENST00000262186.9:c.2309T>C ENSP00000262186.5:p.Val770Ala
ENST00000330883.8:c.1289T>C ENSP00000328531.4:p.Val430Ala
ENST00000430723.4:c.1961T>C ENSP00000387657.4:p.Val654Ala
ENST00000461280.1:n.1596T>C
ENST00000473610.5:n.1941T>C
ENST00000532957.5:n.2532T>C
NM_000238.3:c.2309T>C , LRG_288t1:c.2309T>C NP_000229.1:p.Val770Ala
NM_001204798.1:c.1289T>C NP_001191727.1:p.Val430Ala
NM_172056.2:c.2309T>C , LRG_288t2:c.2309T>C NP_742053.1:p.Val770Ala
NM_172057.2:c.1289T>C , LRG_288t3:c.1289T>C NP_742054.1:p.Val430Ala
XM_011516185.1:c.2009T>C XP_011514487.1:p.Val670Ala
XM_011516186.1:c.2309T>C XP_011514488.1:p.Val770Ala
XM_011516185.2:c.2009T>C XP_011514487.1:p.Val670Ala
XM_011516186.3:c.2309T>C XP_011514488.1:p.Val770Ala
XM_017012195.1:c.2159T>C XP_016867684.1:p.Val720Ala
XM_017012196.1:c.2132T>C XP_016867685.1:p.Val711Ala
NM_000238.4:c.2309T>C MANE Select NP_000229.1:p.Val770Ala
NM_001204798.2:c.1289T>C NP_001191727.1:p.Val430Ala
NM_172057.3:c.1289T>C NP_742054.1:p.Val430Ala
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